Molecular insights into primary hyperoxaluria type 1 pathogenesis.

[primary hyperoxaluria type 1]

Primary hyperoxaluria type 1 (PH 1 ) is a rare autosomal recessive disorder of glyoxylate metabolism caused by the deficiency of liver peroxisomal alanine :glyoxylate aminotransferase (AGT ), a pyridoxal 5 '-phosphate (PLP )-dependent enzyme . The PH 1 pathogenesis is mostly due to single point mutations (more than 150 so far identified ) on the AGXT gene , and is characterized by a marked heterogeneity in terms of genotype , enzymatic and clinical phenotypes . This article presents an up to date review of selected aspects of the biochemical properties of the two allelic forms of AGT and of some PH 1 -causing variants . These recent discoveries highlight the effects at the protein level of the pathogenic mutations , and , together with previous cell biology and clinical data , (i ) improve the understanding of the molecular basis of PH 1 pathogenesis , and (ii ) help to delineate perspectives for predicting the response to pyridoxine treatment or for suggesting new strategies for PH 1 patients bearing the analyzed mutations .

Diseases
Validation

Diseases presenting "selected aspects of the biochemical properties" symptom

primary hyperoxaluria type 1

You can validate or delete this automatically detected symptom